MCID: PRR020
MIFTS: 24

Perrault Syndrome 1

Categories: Genetic diseases, Rare diseases, Fetal diseases, Endocrine diseases, Metabolic diseases, Ear diseases, Reproductive diseases

Aliases & Classifications for Perrault Syndrome 1

MalaCards integrated aliases for Perrault Syndrome 1:

Name: Perrault Syndrome 1 53 71 13
Ovarian Dysgenesis with Sensorineural Deafness 53 71
Prlts1 53 71
Gonadal Dysgenesis, Xx Type, with Deafness 53
Gonadal Dysgenesis Xx Type with Deafness 71
Gonadal Dysgenesis Xx Type Deafness 69

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset of deafness in early childhood
affected females are infertile
some females have only deafness and ovarian dysgenesis without neurologic abnormalities
affected males have normal pubertal development and are fertile


HPO:

31
perrault syndrome 1:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Perrault Syndrome 1

OMIM : 53 Perrault syndrome is a sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement (summary by Pierce et al., 2010). Pierce et al. (2010) noted that clinical heterogeneity of Perrault syndrome has prompted classification into type I, which is static and without neurologic disease, and type II, which is with progressive neurologic disease. (233400)

MalaCards based summary : Perrault Syndrome 1, also known as ovarian dysgenesis with sensorineural deafness, is related to perrault syndrome and d-bifunctional protein deficiency, and has symptoms including gait ataxia, high palate and nystagmus. An important gene associated with Perrault Syndrome 1 is HSD17B4 (Hydroxysteroid 17-Beta Dehydrogenase 4). Affiliated tissues include ovary.

UniProtKB/Swiss-Prot : 71 Perrault syndrome 1: A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement.

Related Diseases for Perrault Syndrome 1

Diseases in the Perrault Syndrome family:

Perrault Syndrome 1 Perrault Syndrome 3
Perrault Syndrome 2 Perrault Syndrome 4
Perrault Syndrome 5 Perrault Syndrome 6

Diseases related to Perrault Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 perrault syndrome 11.4
2 d-bifunctional protein deficiency 10.9
3 perrault syndrome 3 10.9
4 perrault syndrome 2 10.9
5 perrault syndrome 4 10.9

Graphical network of the top 20 diseases related to Perrault Syndrome 1:



Diseases related to Perrault Syndrome 1

Symptoms & Phenotypes for Perrault Syndrome 1

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
nystagmus
limited extraocular movements

Skeletal Feet:
pes cavus
pes equinovarus

Growth Other:
growth retardation

Endocrine Features:
amenorrhea, primary
increased gonadotropin levels
low estradiol

Neurologic Central Nervous System:
cognitive impairment (in some patients)
delayed motor development (in some patients)
ataxic gait (in some patients)
spastic diplegia (in some patients)
dysarthria (in some patients)
more
Genitourinary External Genitalia Female:
immature genitalia

Laboratory Abnormalities:
decreased beta-oxidation of pristanic acid

Skeletal Spine:
scoliosis

Head And Neck Mouth:
high-arched palate

Head And Neck Ears:
hearing loss, sensorineural

Neurologic Peripheral Nervous System:
hyporeflexia (in some patients)
sensorimotor demyelinating or axonal peripheral neuropathy (in some patients)
areflexia (in some patients)

Genitourinary Internal Genitalia Female:
ovarian dysgenesis
streak gonads
small ovaries
lack of ovaries

Muscle Soft Tissue:
weakness of the lower limbs


Clinical features from OMIM:

233400

Human phenotypes related to Perrault Syndrome 1:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 gait ataxia 31 HP:0002066
2 high palate 31 HP:0000218
3 nystagmus 31 HP:0000639
4 dysarthria 31 occasional (7.5%) HP:0001260
5 scoliosis 31 HP:0002650
6 sensorineural hearing impairment 31 HP:0000407
7 short stature 31 HP:0004322
8 cognitive impairment 31 occasional (7.5%) HP:0100543
9 osteoporosis 31 HP:0000939
10 increased circulating gonadotropin level 31 HP:0000837
11 primary amenorrhea 31 HP:0000786
12 pes cavus 31 HP:0001761
13 talipes equinovarus 31 HP:0001762
14 areflexia 31 occasional (7.5%) HP:0001284
15 hyporeflexia 31 occasional (7.5%) HP:0001265
16 cerebellar atrophy 31 occasional (7.5%) HP:0001272
17 motor delay 31 occasional (7.5%) HP:0001270
18 sensorimotor neuropathy 31 occasional (7.5%) HP:0007141
19 gonadal dysgenesis 31 HP:0000133
20 spastic diplegia 31 occasional (7.5%) HP:0001264
21 limited extraocular movements 31 HP:0007941

Drugs & Therapeutics for Perrault Syndrome 1

Search Clinical Trials , NIH Clinical Center for Perrault Syndrome 1

Genetic Tests for Perrault Syndrome 1

Anatomical Context for Perrault Syndrome 1

MalaCards organs/tissues related to Perrault Syndrome 1:

38
Ovary

Publications for Perrault Syndrome 1

Variations for Perrault Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Perrault Syndrome 1:

71
# Symbol AA change Variation ID SNP ID
1 HSD17B4 p.Tyr217Cys VAR_065907 rs387906825

ClinVar genetic disease variations for Perrault Syndrome 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HSD17B4 NM_000414.3(HSD17B4): c.650A> G (p.Tyr217Cys) single nucleotide variant Pathogenic rs387906825 GRCh37 Chromosome 5, 118824914: 118824914
2 HSD17B4 HSD17B4, TYR568TER undetermined variant Pathogenic
3 HSD17B4 NM_000414.3(HSD17B4): c.101C> T (p.Ala34Val) single nucleotide variant Pathogenic rs587777442 GRCh38 Chromosome 5, 119456357: 119456357
4 HSD17B4 NM_000414.3(HSD17B4): c.1547T> C (p.Ile516Thr) single nucleotide variant Pathogenic rs587777443 GRCh38 Chromosome 5, 119525259: 119525259
5 HSD17B4 NM_000414.3(HSD17B4): c.1538C> T (p.Pro513Leu) single nucleotide variant Pathogenic rs587777444 GRCh38 Chromosome 5, 119525250: 119525250
6 HSD17B4 NM_000414.3(HSD17B4): c.1628G> C (p.Arg543Pro) single nucleotide variant Pathogenic rs201009485 GRCh38 Chromosome 5, 119525971: 119525971
7 HSD17B4 NM_000414.3(HSD17B4): c.1369A> T (p.Asn457Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137853097 GRCh37 Chromosome 5, 118844871: 118844871
8 HSD17B4 NM_000414.3(HSD17B4): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs1085307072 GRCh38 Chromosome 5, 119452578: 119452578

Expression for Perrault Syndrome 1

Search GEO for disease gene expression data for Perrault Syndrome 1.

Pathways for Perrault Syndrome 1

GO Terms for Perrault Syndrome 1

Sources for Perrault Syndrome 1

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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